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+ Genes 613

Genes:
A2ML1, ABCA10, ABI3BP, ABTB1, AC005609.1, AC007956.1, AC008686.1, AC010536.1, AC012123.1, AC062017.1, AC090616.2, AC096644.1, AC110781.3, ACACB, ACADS, ACLY, ACTN3, ACTN4, ACVR1, ADA, ADAM8, ADAMTS13, ADCK3, ADCY10, ADH1C, ADH4, ADRBK1, AGO2, AKAP3, AKR1C1, AKR1C2, AL133373.1, AL136115.1, ALAD, ALDH3B1, ALDH4A1, ALG9, ALKBH2, ALKBH3, ALOX15B, ANKDD1B, ANKRD20A1, ANKRD30A, ANKRD30BL, ANKRD36, ANKRD36C, ANPEP, AOAH, AOC3, AP001468.1, AP003062.1, APC, AQP2, AQPEP, ARMS2, ARSB, ARSD, ASAP3, ASB10, ASMTL, ASPA, ATG9B, ATP6V1B1, ATXN3, B3GNT3, B3GNT6, B4GALT1, BACH2, BARD1, BEST3, BLVRB, C11orf40, C14orf23, C17orf100, C18orf63, C21orf49, C2orf82, C2orf83, C5orf20, C5orf38, C9orf89, CA2, CACNA1B, CAPN8, CARD8, CASP12, CAT, CBLC, CBR3, CCDC101, CCHCR1, CD180, CD207, CDC27, CDCP2, CELA1, CEP164, CEP89, CFTR, CHI3L1, CHI3L2, CKB, CLC, CLDN16, CLDN5, CLEC7A, CLECL1, CLTCL1, CNOT1, CNTN5, COL26A1, COL6A5, COMT, COPZ2, COQ10A, CPN2, CPOX, CPSF6, CREB3L1, CREBBP, CRIPAK, CRYBA4, CRYM, CTBP2, CTC-241N9.1, CTD-2368P22.1, CTD-3193O13.9, CTDSP2, CYFIP2, CYP11B2, CYP19A1, CYP21A2, CYP2C9, CYP2R1, CYP4B1, CYTH3, DCAF7, DEFB126, DHRS4, DHRS4L2, DIXDC1, DLC1, DNAJB7, DNAJC28, DNASE1L2, DOC2A, DPP6, DPYSL2, DUSP12, DYX1C1, EBF1, ECHDC3, EI24, ELANE, EMG1, EMX2, ENPP4, EP300, EPB41L4A-AS2, EPDR1, EPHA5, EPHB4, ERAP1, ERAP2, ERCC1, ERN1, ERVW-1, ESRRA, FAM166A, FAM182B, FAM186A, FAM228B, FAM230A, FAM58A, FAM96A, FASN, FCRL6, FDFT1, FGFR2, FOXD1, FOXD4, FRG1B, FRG2C, GABRR3, GALM, GALNS, GALR2, GAS2L1, GBA3, GBE1, GBGT1, GIMAP2, GOLGA6L1, GOLGA6L2, GOLGA6L6, GPATCH4, GPD1, GPRC6A, GPRIN1, GRIN3B, GZMB, H2BFM, HAAO, HAPLN3, HAS1, HBB, HCG27, HCN2, HERC2, HK2, HLA-A, HLA-B, HLA-DQA1, HLA-DQB1, HLA-DRB1, HLA-DRB5, HMGA1, HMGCS1, HPN, HPS4, HRNR, HS3ST6, HSH2D, HSPA2, HSPA6, HSPA9, HTR3E, HYDIN, IDI2, IFNL4, IGFBP1, IGHJ6, IGHV1-24, IGHV3-23, IGHV3-48, IGHV3OR16-13, IGHV4-28, IGHV4-39, IGHV6-1, IGKV4-1, IGLJ2, IGLV3-12, IGLV3-16, IGLV3-22, IGLV5-45, IGSF3, IL32, IL34, INMT, IQSEC1, ISG15, ITCH, ITIH5, ITIH6, JMJD1C, KAT8, KCNJ16, KCNMB3, KDM2A, KHDC1, KIAA1522, KIR2DL1, KIR2DL4, KIR2DS4, KISS1, KLK10, KMT2B, KMT2C, KMT2E, KPNA2, KRAS, KRBA1, KRIT1, KRT37, KRTAP1-1, KRTAP10-1, KRTAP13-2, KRTAP19-6, KRTAP29-1, KRTAP4-8, KRTAP9-1, KYNU, LAPTM4B, LASP1, LCA10, LDB3, LENG9, LEO1, LEPREL2, LGALS3, LGALS8, LGR5, LIG4, LINC00955, LMAN1, LRP6, LRRIQ1, MADCAM1, MAGEA4, MAGEB16, MAL2, MAML3, MAP2K3, MAP3K8, MAPK11, MAPK12, MAPK8IP2, MAPKAP1, MAPKAPK2, MAT1A, MB21D1, MDK, MED28, MEFV, MEP1B, MESP1, METTL21C, METTL8, MICA, MINA, MMACHC, MMP10, MMP28, MROH2B, MROH5, MROH6, MROH8, MS4A14, MTAP, MTCH2, MUC12, MUC16, MUC17, MUC19, MUC20, MUC3A, MUC4, MUC6, MUS81, MVB12B, MYOC, NBPF12, NBPF9, NCAM1, NCF2, NCOR1, NDUFB9, NDUFS6, NEK3, NET1, NFATC2, NLRC3, NLRP8, NLRX1, NME3, NOP16, NOTCH2, NPDC1, NPIPB15, NPRL3, NPSR1, NQO1, NRP1, NSUN4, NUDT11, NUDT18, OAS1, OAS2, OASL, OAT, OBP2A, OPLAH, OR10AD1, OR10D3, OR10J4, OR10X1, OR11G2, OR11H7, OR1B1, OR1S1, OR2B11, OR2L8, OR2T29, OR2T35, OR2T4, OR2W3, OR4C16, OR4C3, OR4C5, OR4L1, OR4Q2, OR4X1, OR51F1, OR51J1, OR51Q1, OR52B4, OR52E8, OR52J3, OR5AC2, OR5AR1, OR5K3, OR5K4, OR5M1, OR6C1, OR6C76, OR7G3, OR8K1, OR8U1, P2RX5, P4HA3, P4HB, PABPC1, PABPC3, PADI2, PADI4, PAPPA-AS1, PARP2, PCDHA4, PCDHB8, PCK1, PCSK6, PCSK9, PDCD6, PDE1B, PDE4DIP, PFKP, PGPEP1L, PGR, PIK3CA, PIK3R6, PIN1, PIR, PKD1L2, PLA2G7, PLCB3, PLCD3, PLEKHA2, PLXNC1, PNLIPRP2, PNP, PNPT1, POLDIP2, POLE, POU4F1, PPIC, PPP1R9B, PPP5D1, PRAMEF1, PRB3, PRDM15, PRIM1, PRIM2, PRKCD, PRKDC, PRKG1, PRKRA, PRR25, PRSS3, PRSS48, PSAT1, PSG1, PSG7, PSORS1C1, PTBP1, PTCHD3, PTGR2, PTPN6, PTPRQ, PVRIG, PVRL4, RAB8A, RAC2, RBBP4, RBMX, RECQL4, RIBC2, RIPK1, ROR2, RP11-131H24.4, RP11-1407O15.2, RP11-156E8.1, RP11-166B2.1, RP11-17M16.1, RP11-181C3.1, RP11-352D3.2, RP11-487E13.1, RP11-507M3.1, RP11-794P6.2, RP2, RPA1, RRM1, RRM2B, RTN4IP1, RYK, SARM1, SBK3, SCAMP1, SCAPER, SCARF2, SDR42E1, SEC14L3, SEC14L4, SENP3, SERPINB5, SETD6, SHARPIN, SHKBP1, SIGLEC12, SIRT5, SLAIN1, SLC22A10, SLC22A24, SLC25A5, SLC35G6, SLC37A4, SLC46A1, SLC9B1, SLC9B1P1, SND1, SNRNP200, SNRPA, SON, SORL1, SPATA8, SPATC1, SPIRE2, SRA1, SRL, SRRM3, SRSF8, STAMBP, STK10, STK17B, SUFU, SULT1A2, SULT1C3, SULT2A1, TAAR9, TAP2, TAS2R19, TCEAL6, TCP11, TES, TEX13A, TGOLN2, THEM5, TIGD6, TLR3, TLR6, TMEM120A, TMEM173, TMEM80, TNFRSF12A, TNFRSF6B, TNFSF10, TNFSF15, TP53I11, TP73, TPH2, TPSD1, TPTE, TRAJ36, TRAJ37, TRAV26-1, TRBV10-1, TRBV11-1, TRBV5-4, TRBV5-5, TRBV6-5, TRBV6-7, TRBV7-3, TRDMT1, TSGA10IP, TSPAN10, TSPAN16, TTC4, TTC9C, TYW1B, UBE2NL, UBXN11, UGDH, UGT2A1, UNC50, USP2, USP29, VSIG10L, VWA7, VWF, WAPAL, WARS, XDH, XYLB, ZACN, ZAN, ZAP70, ZC3H3, ZFHX3, ZFPM1, ZNF117, ZNF211, ZNF233, ZNF286B, ZNF418, ZNF480, ZNF516, ZNF543, ZNF598, ZNF626, ZNF717, ZNF80, ZNF812, ZNF852, ZNF880,

+ Genes associated with diseases 138

Genes at Omim

A2ML1, ACADS, ACTN3, ACTN4, ACVR1, ADA, ADAMTS13, ADCK3, ADCY10, ADH1C, AKR1C2, ALAD, ALDH4A1, ALG9, APC, AQP2, ARSB, ASB10, ASPA, ATXN3, B4GALT1, BARD1, CA2, CACNA1B, CASP12, CAT, CD207, CEP164, CFTR, CHI3L1, CLDN16, CLEC7A, COMT, CPOX, CREB3L1, CREBBP, CRYBA4, CRYM, CYFIP2, CYP11B2, CYP19A1, CYP21A2, CYP2C9, CYP2R1, DLC1, DPP6, ELANE, EMG1, EMX2, EP300, EPHB4, ERCC1, FAM58A, FDFT1, FGFR2, GALNS, GBE1, GPD1, HAAO, HBB, HERC2, HLA-A, HLA-B, HLA-DQA1, HLA-DQB1, HLA-DRB1, HMGA1, HPS4, HSPA9, HYDIN, IGSF3, ISG15, ITCH, KISS1, KMT2B, KMT2C, KRAS, KYNU, LDB3, LIG4, LMAN1, LRP6, MAP3K8, MAT1A, MEFV, MMACHC, MTAP, MYOC, NCF2, NDUFB9, NDUFS6, NOTCH2, NPRL3, NPSR1, NQO1, OAT, OPLAH, P4HB, PADI4, PCK1, PCSK9, PGR, PIK3CA, PLA2G7, PNP, PNPT1, POLE, PRKCD, PRKDC, PRKG1, PRKRA, PSAT1, PTPRQ, RAC2, RBMX, RECQL4, RIPK1, ROR2, RP2, RRM2B, RTN4IP1, SCAPER, SCARF2, SLC37A4, SLC46A1, SNRNP200, SON, STAMBP, SUFU, TAP2, TLR3, TMEM173, TPH2, VWF, WARS, XDH, ZAP70, ZFHX3,
A2ML1 {Otitis media, susceptibility to}, 166760 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACTN3 [Alpha-actinin-3 deficiency], 617749 (3)
[Sprinting performance], 617749 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ACVR1 Fibrodysplasia ossificans progressiva, 135100 (3)
ADA Adenosine deaminase deficiency, partial, 102700 (3)
Severe combined immunodeficiency due to ADA deficiency, 102700 (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
AKR1C2 46XY sex reversal 8, 614279 (3)
ALAD {Lead poisoning, susceptibility to}, 612740 (3)
Porphyria, acute hepatic, 612740 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (3)
APC Adenoma, periampullary, somatic (3)
Adenomatous polyposis coli, 175100 (3)
Gardner syndrome, 175100 (3)
Gastric cancer, somatic, 613659 (3)
Brain tumor-polyposis syndrome 2, 175100 (3)
Hepatoblastoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Desmoid disease, hereditary, 135290 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200 (3)
ASB10 Glaucoma 1, open angle, F, 603383 (3)
ASPA Canavan disease, 271900 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
B4GALT1 Congenital disorder of glycosylation, type IId, 607091 (3)
BARD1 {Breast cancer, susceptibility to}, 114480 (3)
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)
CACNA1B ?Dystonia 23, 614860 (3)
CASP12 {Sepsis, susceptibility to} (3)
CAT Acatalasemia, 614097 (3)
CD207 [?Birbeck granule deficiency], 613393 (3)
CEP164 Nephronophthisis 15, 614845 (3)
CFTR {Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
CLDN16 Hypomagnesemia 3, renal, 248250 (3)
CLEC7A Candidiasis, familial, 4, autosomal recessive, 613108 (3)
{Aspergillosis, susceptibility to}, 614079 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CPOX Harderoporphyria, 121300 (3)
Coproporphyria, 121300 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CREBBP Menke-Hennekam syndrome 1, 618332 (3)
Rubinstein-Taybi syndrome 1, 180849 (3)
CRYBA4 Cataract 23, 610425 (3)
CRYM Deafness, autosomal dominant 40, 616357 (3)
CYFIP2 Epileptic encephalopathy, early infantile, 65, 618008 (3)
CYP11B2 Aldosterone to renin ratio raised (3)
{Low renin hypertension, susceptibility to} (3)
Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)
Hypoaldosteronism, congenital, due to CMO II deficiency, 610600 (3)
CYP19A1 Aromatase deficiency, 613546 (3)
Aromatase excess syndrome, 139300 (3)
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
CYP2C9 Tolbutamide poor metabolizer (3)
Warfarin sensitivity, 122700 (3)
CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
DLC1 Colorectal cancer, somatic, 114500 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
ELANE Neutropenia, cyclic, 162800 (3)
Neutropenia, severe congenital 1, autosomal dominant, 202700 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
EMX2 Schizencephaly, 269160 (3)
EP300 Colorectal cancer, somatic, 114500 (3)
Menke-Hennekam syndrome 2, 618333 (3)
Rubinstein-Taybi syndrome 2, 613684 (3)
EPHB4 Capillary malformation-arteriovenous malformation 2, 618196 (3)
Lymphatic malformation 7, 617300 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
FAM58A STAR syndrome, 300707 (3)
FDFT1 Squalene synthase deficiency, 618156 (3)
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Apert syndrome, 101200 (3)
Gastric cancer, somatic, 613659 (3)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Bent bone dysplasia syndrome, 614592 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniosynostosis, nonspecific (3)
Crouzon syndrome, 123500 (3)
Jackson-Weiss syndrome, 123150 (3)
LADD syndrome, 149730 (3)
Pfeiffer syndrome, 101600 (3)
Saethre-Chotzen syndrome, 101400 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
GALNS Mucopolysaccharidosis IVA, 253000 (3)
GBE1 Glycogen storage disease IV, 232500 (3)
Polyglucosan body disease, adult form, 263570 (3)
GPD1 Hypertriglyceridemia, transient infantile, 614480 (3)
HAAO Vertebral, cardiac, renal, and limb defects syndrome 1, 617660 (3)
HBB Heinz body anemia, 140700 (3)
Hereditary persistence of fetal hemoglobin, 141749 (3)
{Malaria, resistance to}, 611162 (3)
Delta-beta thalassemia, 141749 (3)
Erythrocytosis 6, 617980 (3)
Methmoglobinemia, beta type, 617971 (3)
Sickle cell anemia, 603903 (3)
Thalassemia, beta, 613985 (3)
Thalassemia-beta, dominant inclusion-body, 603902 (3)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HLA-DQA1 {Celiac disease, susceptibility to}, 212750 (3)
HLA-DQB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Celiac disease, susceptibility to}, 212750 (3)
{Creutzfeldt-Jakob disease, variant, resistance to}, 123400 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HMGA1 {Diabetes mellitus, noninsulin-dependent, susceptibility to}, 125853 (3)
HPS4 Hermansky-Pudlak syndrome 4, 614073 (3)
HSPA9 Anemia, sideroblastic, 4, 182170 (3)
Even-plus syndrome, 616854 (3)
HYDIN Ciliary dyskinesia, primary, 5, 608647 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
ISG15 Immunodeficiency 38, 616126 (3)
ITCH Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)
KISS1 ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
KYNU ?Hydroxykynureninuria, 236800 (3)
Vertebral, cardiac, renal, and limb defects syndrome 2, 617661 (3)
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3)
Cardiomyopathy, hypertrophic, 24, 601493 (3)
Left ventricular noncompaction 3, 601493 (3)
Myopathy, myofibrillar, 4, 609452 (3)
LIG4 {Multiple myeloma, resistance to}, 254500 (3)
LIG4 syndrome, 606593 (3)
LMAN1 Combined factor V and VIII deficiency, 227300 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
MAP3K8 Lung cancer, somatic, 211980 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MEFV Familial Mediterranean fever, AD, 134610 (3)
Familial Mediterranean fever, AR, 249100 (3)
MMACHC Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
MYOC Glaucoma 1A, primary open angle, 137750 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NDUFB9 ?Mitochondrial complex I deficiency, nuclear type 24, 618245 (3)
NDUFS6 Mitochondrial complex I deficiency, nuclear type 9, 618232 (3)
NOTCH2 Alagille syndrome 2, 610205 (3)
Hajdu-Cheney syndrome, 102500 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
NPSR1 {Asthma, susceptibility to, 2}, 608584 (3)
NQO1 {Leukemia, post-chemotherapy, susceptibility to} (3)
{Benzene toxicity, susceptibility to} (3)
{Breast cancer, poor survival after chemotherapy for} (3)
OAT Gyrate atrophy of choroid and retina with or without ornithinemia, 258870 (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
P4HB Cole-Carpenter syndrome 1, 112240 (3)
PADI4 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
PCK1 ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic, 261680 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
PGR ?Progesterone resistance, 264080 (2)
PIK3CA CLAPO syndrome, somatic, 613089 (3)
CLOVE syndrome, somatic, 612918 (3)
Gastric cancer, somatic, 613659 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
Colorectal cancer, somatic, 114500 (3)
Cowden syndrome 5, 615108 (3)
Keratosis, seborrheic, somatic, 182000 (3)
Macrodactyly, somatic, 155500 (3)
Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, 602501 (3)
Nevus, epidermal, somatic, 162900 (3)
Nonsmall cell lung cancer, somatic, 211980 (3)
Ovarian cancer, somatic, 167000 (3)
PLA2G7 Platelet-activating factor acetylhydrolase deficiency, 614278 (3)
{Asthma, susceptibility to}, 600807 (3)
{Atopy, susceptibility to}, 147050 (3)
PNP Immunodeficiency due to purine nucleoside phosphorylase deficiency, 613179 (3)
PNPT1 Combined oxidative phosphorylation deficiency 13, 614932 (3)
Deafness, autosomal recessive 70, 614934 (3)
POLE IMAGE-I syndrome, 618336 (3)
FILS syndrome, 615139 (3)
{Colorectal cancer, susceptibility to, 12}, 615083 (3)
PRKCD Autoimmune lymphoproliferative syndrome, type III, 615559 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PRKG1 Aortic aneurysm, familial thoracic 8, 615436 (3)
PRKRA Dystonia 16, 612067 (3)
PSAT1 Neu-Laxova syndrome 2, 616038 (3)
?Phosphoserine aminotransferase deficiency, 610992 (3)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (3)
RAC2 Neutrophil immunodeficiency syndrome, 608203 (3)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RIPK1 Immunodeficiency 57, 618108 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
RP2 Retinitis pigmentosa 2, 312600 (3)
RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (3)
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3)
SCAPER Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SNRNP200 Retinitis pigmentosa 33, 610359 (3)
SON ZTTK syndrome, 617140 (3)
STAMBP Microcephaly-capillary malformation syndrome, 614261 (3)
SUFU Basal cell nevus syndrome, 109400 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
Joubert syndrome 32, 617757 (3)
Medulloblastoma, desmoplastic, 155255 (3)
TAP2 Bare lymphocyte syndrome, type I, due to TAP2 deficiency, 604571 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TMEM173 STING-associated vasculopathy, infantile-onset, 615934 (3)
TPH2 {Unipolar depression, susceptibility to}, 608516 (3)
{Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WARS Neuronopathy, distal hereditary motor, type IX, 617721 (3)
XDH Xanthinuria, type I, 278300 (3)
ZAP70 Autoimmune disease, multisystem, infantile-onset, 2, 617006 (3)
Immunodeficiency 48, 269840 (3)
ZFHX3 Prostate cancer, somatic, 176807 (3)

Genes at Clinical Genomics Database

ACADS, ACTN4, ACVR1, ADA, ADAMTS13, ADCK3, AKR1C2, ALAD, ALDH4A1, ALG9, APC, AQP2, ARSB, ASPA, ATP6V1B1, ATXN3, B4GALT1, BARD1, CA2, CACNA1B, CAT, CD207, CEP164, CFTR, CLDN16, CLEC7A, COMT, CPOX, CREB3L1, CREBBP, CRYBA4, CRYM, CYP11B2, CYP19A1, CYP21A2, CYP2C9, CYP2R1, DPP6, DYX1C1, ELANE, EMG1, EMX2, EP300, ERCC1, FAM58A, FGFR2, GALNS, GBE1, GPD1, HBB, HERC2, HLA-A, HLA-B, HPS4, HSPA9, IGSF3, ISG15, ITCH, KISS1, KRAS, KRIT1, KYNU, LDB3, LIG4, LMAN1, LRP6, MAT1A, MEFV, MMACHC, MTAP, MYOC, NCF2, NDUFS6, NOTCH2, OAT, OPLAH, P4HB, PCSK9, PIK3CA, PLA2G7, PNP, PNPT1, POLE, PRKCD, PRKDC, PRKG1, PRKRA, PSAT1, PTPRQ, RAC2, RBMX, RECQL4, ROR2, RP2, RRM2B, RTN4IP1, SCARF2, SLC37A4, SLC46A1, SNRNP200, STAMBP, SUFU, TAP2, TLR3, TMEM173, VWF, XDH, ZAP70, ZNF480,
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACTN4 Focal segmental glomerulosclerosis 1
ACVR1 Fibrodysplasia ossificans progressiva
ADA Severe combined immunodeficiency due to adenosine deaminase deficiency
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
AKR1C2 46,XY sex reversal 8
ALAD Porphyria, acute hepatic
ALDH4A1 Hyperprolinemia, type II
ALG9 Congenital disorder of glycosylation, type Il
APC Familial adenomatous polyposis
Gardner syndrome
Desmoid disease, hereditary
AQP2 Diabetes insipidus, nephrogenic, autosomal
ARSB Mucopolysaccharidosis type VI (Maroteaux-Lamy)
ASPA Aspartoacylase deficiency (Canavan disease)
ATP6V1B1 Renal tubular acidosis with deafness
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
B4GALT1 Congenital disorder of glycosylation, type IId
BARD1 Breast cancer, susceptibility to
CA2 Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
CACNA1B Dystonia 23
CAT Acatalasemia
CD207 Birbeck granule deficiency
CEP164 Nephronophthisis 15
CFTR Cystic fibrosis
CLDN16 Hypomagnesemia 3, renal
CLEC7A Candidiasis, familial, 4
COMT Medication response, association with
CPOX Coproporphyria
Harderoporphyria
CREB3L1 Osteogenesis imperfecta, type XVI
CREBBP Rubinstein-Taybi syndrome
CRYBA4 Cataract 23
CRYM Deafness, autosomal dominant 40
CYP11B2 Corticosterone methyloxidase type I deficiency
Corticosterone methyloxidase type II deficiency
Glucocorticoid-remediable aldosteronism
CYP19A1 Aromatase deficiency
CYP21A2 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
CYP2C9 Drug metabolism, CYP2C9-related
CYP2R1 Vitamin D hydroxylation deficient rickets, type 1B
DPP6 Ventricular fibrillation, paroxysmal familial, 2
DYX1C1 Ciliary dyskinesia, primary 25
ELANE Neutropenia, severe congenital 1, autosomal dominant
Neutropenia, cyclic
EMG1 Bowen-Conradi syndrome
EMX2 Schizencephaly
EP300 Rubinstein-Taybi syndrome 2
ERCC1 Cerebrooculofacioskeletal syndrome 4
FAM58A STAR syndrome
Toe syndactyly, telecanthus, and anogenital and renal malformations
FGFR2 Lacrimoauriculodentodigital syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Sraniofacial-skeletal-dermatological dysplasia
Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
GALNS Mucopolysaccharidosis IVA (Morquio syndrome A)
GBE1 Glycogen storage disease IV
GPD1 Hypertriglyceridemia, transient infantile
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HERC2 Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
HLA-A Drug-induced toxicity, susceptibility to
HLA-B Drug-induced toxicity, susceptibility to
HPS4 Hermansky-Pudlak syndrome 4
HSPA9 Anemia, sideroblastic 4
IGSF3 Lacrimal duct defect
ISG15 Immunodeficiency 38, with basal ganglia calcification
ITCH Autoimmune disease, syndromic multisystem
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
KRIT1 Cerebral cavernous malformations 1
KYNU Hydroxykynureninuria
LDB3 Cardiomyopathy, dilated 1C, with or without ventricular noncompaction
Myopathy, myofibrillar 4
LIG4 LIG4 syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
LMAN1 Combined factor V and VIII deficiency
LRP6 Coronary artery disease, autosomal dominant 2
MAT1A Methionine adenosyltransferase deficiency
MEFV Familial Mediterranean fever
MMACHC Methylmalonic aciduria and homocystinuria, cblC type
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MYOC Glaucoma, primary open angle
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NDUFS6 Mitochondrial complex I deficiency
NOTCH2 Alagille syndrome 2
OAT Gyrate atrophy of choroid and retina
OPLAH 5-oxoprolinase deficiency
P4HB Cole Carpenter syndrome 1
PCSK9 Hypercholesterolemia, familial, 3
PIK3CA Cowden syndrome 5
PLA2G7 Platelet-activating factor acetylhydrolase deficiency
PNP Purine nucleoside phosphorylase deficiency
PNPT1 Deafness, autosomal recessive 70
POLE Colorectal cancer, susceptibility to, 12
Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
PRKCD Autoimmune lymphoproliferative syndrome type III
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PRKG1 Aortic aneurysm, familial thoracic 8
PRKRA Dystonia 16
PSAT1 Phosphoserine aminotransferase deficiency
PTPRQ Deafness, autosomal recessive 84
RAC2 Neutrophil immunodeficiency syndrome
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
ROR2 Robinow syndrome, autosomal recessive
Brachydactyly, type B1
RP2 Retinitis pigmentosa 2
RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
Mitochondrial DNA depletion syndrome 8A
Mitochondrial DNA depletion syndrome 8B
RTN4IP1 Optic atrophy 10 with or without ataxia, mental retardation, and seizures
SCARF2 Van den Ende-Gupta syndrome
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC46A1 Folate malabsorption, hereditary
SNRNP200 Retinitis pigmentosa 33
STAMBP Microcephaly-capillary malformation syndrome
SUFU Medulloblastoma
Basal cell nevus syndrome
TAP2 Bare lymphocyte syndrome, type I
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TMEM173 STING-associated vasculopathy, infantile-onsent (SAVI)
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
XDH Xanthinuria, type I
ZAP70 Selective T-cell defect
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 883
Number of Genes: 613

Export to: CSV

A2ML1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 12 rs144686314
dbSNP Clinvar 		9016562 1594.17 GGC G PASS 0/1 109 FRAME_SHIFT HIGH None 0.02696 0.02696 0.03944 None None None None None None A2ML1|0.011663794|79.48%

ABCA10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 17 rs113082690
dbSNP Clinvar 		67190536 2715.45 AACAG A PASS 0/1 162 FRAME_SHIFT HIGH None 0.08846 0.08846 0.07313 None None None None None None ABCA10|0.002179826|90.49%
View combined sample_100.variant 17 rs3842375
dbSNP Clinvar 		67145190 1764.17 TGA T PASS 0/1 111 FRAME_SHIFT HIGH None 0.08806 0.08806 0.06023 None None None None None None ABCA10|0.002179826|90.49%
View combined sample_100.variant 17 rs10491178
dbSNP Clinvar 		67149973 1232.08 G A PASS 0/1 92 STOP_GAINED+SPLICE_SITE_REGION HIGH None 0.08866 0.08866 0.06005 None None None None None None ABCA10|0.002179826|90.49%

ABI3BP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 3 rs3732895
dbSNP Clinvar 		100712249 1093.45 T C PASS 0/1 107 START_LOST HIGH None 0.23942 0.23940 0.14508 0.81 0.00 None None None None None None ABI3BP|0.072954425|56.79%

ABTB1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 3 rs35976576
dbSNP Clinvar 		127396573 2212.7 C T PASS 0/1 186 STOP_GAINED HIGH None 0.00180 0.00180 0.00500 None None None None None None ABTB1|0.075523365|56.17%

AC005609.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 5 rs11321479
dbSNP Clinvar 		140242451 1933.83 GC G PASS 0/1 104 FRAME_SHIFT HIGH None 0.63079 0.63080 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%,PCDHA5|0.043866789|64.55%,PCDHA6|0.050872533|62.4%,PCDHA7|0.028518768|70.18%,PCDHA8|0.015875262|76.54%,PCDHA9|0.018630148|74.91%,PCDHA10|0.087661567|53.69%

AC007956.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 14 rs2270424
dbSNP Clinvar 		75159007 821.8 G A PASS 0/1 64 STOP_GAINED HIGH None 0.24461 0.24460 None None None None None None AREL1|0.445762843|18.38%

AC008686.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 19 rs780460521
dbSNP Clinvar 		13899041 248.32 CT... CT... PASS 1/1 7 FRAME_SHIFT HIGH None None None None None None None None

AC010536.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 16 rs34111279
dbSNP Clinvar 		87729334 3006.59 C CA PASS 0/1 219 FRAME_SHIFT HIGH None None None None None None None JPH3|0.231218042|33.27%

AC012123.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 18 rs200605696
dbSNP Clinvar 		30352057 4598.56 GC... G PASS 1/1 105 FRAME_SHIFT HIGH None None None None None None None KLHL14|0.473561671|17.04%

AC062017.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 2 rs3215239
dbSNP Clinvar 		240323905 3911.39 T TG PASS 0/1 250 FRAME_SHIFT HIGH None 0.51817 0.51820 None None None None None None None
View combined sample_100.variant 2 rs1709851
dbSNP Clinvar 		240323661 1486.47 C A PASS 0/1 114 STOP_GAINED+SPLICE_SITE_REGION HIGH None 0.76178 0.76180 None None None None None None None

AC090616.2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 17 . 30469470 167.94 CC... CC... PASS 0/1 37 GENE_FUSION_REVERESE HIGH None None None None None None None None

AC096644.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 1 rs10553491,rs67066512
dbSNP Clinvar 		220603310 948.83 TGTGA T PASS 0/1 42 FRAME_SHIFT HIGH None None None None None None None None

AC110781.3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 7 rs3889573
dbSNP Clinvar 		1878377 2763.88 A G PASS 1/1 84 START_LOST HIGH None 0.83646 0.83650 0.00 None None None None None None MAD1L1|0.134111219|45.25%

ACACB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 12 rs11065772
dbSNP Clinvar 		109617865 1130.28 T C PASS 1/1 36 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%

ACADS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 12 rs3914
dbSNP Clinvar 		121174899 1516.31 T C PASS 0/1 141 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%

ACLY
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 17 rs8065502
dbSNP Clinvar 		40048613 5415.34 A G PASS 1/1 174 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.90435 0.90440 0.12479 None None None None None None ACLY|0.44685425|18.3%

ACTN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 11 rs1815739
dbSNP Clinvar 		66328095 271.98 T C PASS 0/1 29 STOP_LOST HIGH None 0.59924 0.59920 0.35908 None None None None None None None

ACTN4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 19 rs3745859
dbSNP Clinvar 		39196745 1743.46 C T PASS 0/1 175 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.33926 0.33930 0.39236 None None None None None None ACTN4|0.387377198|21.58%

ACVR1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 2 rs1146031
dbSNP Clinvar 		158626980 3016.07 C T PASS 1/1 89 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.91394 0.91390 0.08850 None None None None None None ACVR1|0.908763541|3.27%

ADA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 20 rs394105
dbSNP Clinvar 		43264927 3088.17 C T PASS 1/1 105 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.98223 0.98220 0.01538 None None None None None None ADA|0.574821556|12.82%

ADAM8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 10 rs1131720
dbSNP Clinvar 		135085321 3841.47 C T PASS 1/1 112 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.84665 0.84660 0.15147 None None None None None None ADAM8|0.004556093|86.35%

ADAMTS13
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 9 rs3124768
dbSNP Clinvar 		136304497 5268.23 A G PASS 1/1 174 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.51597 0.51600 0.41542 None None None None None None ADAMTS13|0.009367264|81.4%

ADCK3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 1 rs3738725
dbSNP Clinvar 		227174210 537.19 T C PASS 0/1 56 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%
View combined sample_100.variant 1 rs12593
dbSNP Clinvar 		227172290 1821.35 C T PASS 0/1 139 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23862 0.23860 0.37367 None None None None None None ADCK3|0.102470418|50.69%

ADCY10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 1 rs203849
dbSNP Clinvar 		167849414 1225.66 A G PASS 0/1 93 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49321 0.49320 0.46570 None None None None None None ADCY10|0.02878338|70.03%

ADH1C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 4 rs283413
dbSNP Clinvar 		100268190 1081.15 A C PASS 1/1 33 STOP_LOST HIGH None 0.99281 0.99280 0.00839 None None None None None None None

ADH4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 4 rs3919370
dbSNP Clinvar 		100064326 1148.2 A T PASS 0/1 99 STOP_GAINED HIGH None 0.11681 0.11680 None None None None None None ADH4|0.01057839|80.46%

ADRBK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 11 rs2228418
dbSNP Clinvar 		67034266 2254.6 C A PASS 1/1 79 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64876 0.64880 0.25747 None None None None None None ADRBK1|0.645969984|10.23%

AGO2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 8 rs2292781
dbSNP Clinvar 		141559358 596.25 G A PASS 0/1 61 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.47244 0.47240 0.39734 None None None None None None AGO2|0.736134544|7.47%

AKAP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 12 rs200178782,rs397849865
dbSNP Clinvar 		4735965 1666.83 T TC PASS 0/1 93 FRAME_SHIFT HIGH None 0.12956 None None None None None None AKAP3|0.022604217|72.88%
View combined sample_100.variant 12 rs67512580
dbSNP Clinvar 		4735969 1663.82 GA G PASS 0/1 95 FRAME_SHIFT HIGH None 0.13195 None None None None None None AKAP3|0.022604217|72.88%

AKR1C1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 10 rs1138600
dbSNP Clinvar 		5010572 490.13 A G PASS 1/1 13 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%

AKR1C2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 10 rs3207909
dbSNP Clinvar 		5041398 328.98 T C PASS 0/1 24 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None AKR1C2|0.002182475|90.47%

AL133373.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 14 rs34650717
dbSNP Clinvar 		92040589 483.74 TC T PASS 0/1 38 FRAME_SHIFT HIGH None 0.49900 0.49900 0.48349 None None None None None None None

AL136115.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 1 rs150609317,rs61601948
dbSNP Clinvar 		32379996 1171.77 CTATT C PASS 0/1 85 FRAME_SHIFT HIGH None 0.01997 0.01997 None None None None None None PTP4A2|0.62283417|11.04%

ALAD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 9 rs1139488
dbSNP Clinvar 		116153900 1653.0 A G PASS 1/1 58 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.35224 0.35220 0.35422 None None None None None None ALAD|0.24202063|32.28%

ALDH3B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 11 rs58160034,rs397695802
dbSNP Clinvar 		67789293 8895.62 G GC PASS 1/1 239 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.00280 0.99720 0.00024 None None None None None None ALDH3B1|0.033093329|68.12%
View combined sample_100.variant 11 rs11436139,rs58238184
dbSNP Clinvar 		67795378 5440.79 G GC PASS 1/1 153 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00424 None None None None None None ALDH3B1|0.033093329|68.12%

ALDH4A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 1 rs7550938
dbSNP Clinvar 		19202917 1972.77 T C PASS 1/1 47 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%
View combined sample_100.variant 1 rs2230708
dbSNP Clinvar 		19201956 2312.56 A G PASS 1/1 73 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%
View combined sample_100.variant 1 rs2230705
dbSNP Clinvar 		19203997 723.36 C G PASS 0/1 68 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%

ALG9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 11 rs10708475
dbSNP Clinvar 		111742145 2489.78 CG C PASS 1/1 63 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ALKBH2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 12 rs33962311
dbSNP Clinvar 		109526189 962.33 C T PASS 0/1 63 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.01178 0.01178 0.01399 0.03 0.52 None None None None None None ALKBH2|0.007056546|83.44%

ALKBH3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 11 rs1048928
dbSNP Clinvar 		43940644 2493.17 G T PASS 1/1 81 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.61621 0.61620 0.46456 None None None None None None ALKBH3|0.085956572|53.95%

ALOX15B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 17 rs11541083
dbSNP Clinvar 		7950377 1588.27 C T PASS 0/1 122 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.24840 0.24840 0.26411 None None None None None None ALOX15B|0.008183706|82.49%
View combined sample_100.variant 17 rs9898751
dbSNP Clinvar 		7950952 345.03 C A PASS 0/1 62 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.44748 0.44750 0.44649 None None None None None None ALOX15B|0.008183706|82.49%
View combined sample_100.variant 17 rs6503070
dbSNP Clinvar 		7948175 284.31 C T PASS 0/1 28 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.59724 0.59720 0.44572 6.72 0.02 0.40915 T None None None None ALOX15B|0.008183706|82.49%

ANKDD1B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 5 rs34358
dbSNP Clinvar 		74965122 1272.26 G A PASS 0/1 102 STOP_GAINED HIGH None 0.50699 0.50700 None None None None None None ANKDD1B|0.036539802|66.95%

ANKRD20A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 9 rs796585045
dbSNP Clinvar 		67938656 172.08 C G PASS 0/1 66 STOP_GAINED+SPLICE_SITE_REGION HIGH None None None None None None None ANKRD20A1|0.001623081|92.24%

ANKRD30A
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 10 rs199779324
dbSNP Clinvar 		37414929 336.31 C T PASS 0/1 17 STOP_GAINED HIGH None 0.00060 0.00060 0.00109 None None None None None None ANKRD30A|0.001436042|93.14%

ANKRD30BL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 2 rs142209162
dbSNP Clinvar 		132905706 939.81 A G PASS 0/1 95 STOP_LOST HIGH None None None None None None None ANKRD30BL|0.00124875|94.17%

ANKRD36
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 2 rs746371426
dbSNP Clinvar 		97818260 217.22 GGC G PASS 0/1 49 FRAME_SHIFT HIGH None None None None None None None ANKRD36|0.001192347|94.46%
View combined sample_100.variant 2 rs772505240
dbSNP Clinvar 		97818264 208.22 G GTT PASS 0/1 50 FRAME_SHIFT HIGH None None None None None None None ANKRD36|0.001192347|94.46%

ANKRD36C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 2 rs74941794
dbSNP Clinvar 		96525771 43.4 A C PASS 0/1 36 STOP_GAINED HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 rs200875477
dbSNP Clinvar 		96521244 1994.87 GTTTT G PASS 0/1 528 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 rs200422439
dbSNP Clinvar 		96521337 388.05 G A PASS 0/1 360 STOP_GAINED HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 rs113448291
dbSNP Clinvar 		96521448 985.13 C CA PASS 0/1 274 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 . 96521464 831.0 C CAG PASS 0/1 323 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 . 96521477 3187.63 A AG PASS 0/1 366 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 . 96521487 2151.33 A AAC PASS 0/1 400 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 rs111957693
dbSNP Clinvar 		96525717 67.78 A AT PASS 0/1 40 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 rs147285461
dbSNP Clinvar 		96610395 873.71 C CA PASS 0/1 99 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 rs76474100
dbSNP Clinvar 		96617111 2445.24 G A PASS 0/1 149 STOP_GAINED HIGH None 0.00040 0.00040 None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 rs373114066
dbSNP Clinvar 		96616505 1671.82 AGC A PASS 0/1 88 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 rs764442566
dbSNP Clinvar 		96616501 1836.5 C CAA PASS 0/1 94 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 rs373126569
dbSNP Clinvar 		96519558 745.36 ATCGT A PASS 0/1 84 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 rs56121945
dbSNP Clinvar 		96519588 759.93 G A PASS 0/1 82 STOP_GAINED HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 . 96521479 4351.96 A AA... PASS 0/1 308 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View combined sample_100.variant 2 . 96521482 4540.29 ATGAG AAG,A PASS 0/1 329 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%

ANPEP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 15 rs41276922
dbSNP Clinvar 		90349461 1641.29 G A PASS 0/1 143 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04253 0.04253 0.06724 None None None None None None ANPEP|0.009750059|81.03%
View combined sample_100.variant 15 rs25653
dbSNP Clinvar 		90349558 5524.42 C T PASS 1/1 165 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.57907 0.57910 0.36598 0.53 0.00 None None None None None None ANPEP|0.009750059|81.03%

AOAH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 7 rs57543920
dbSNP Clinvar 		36552790 3489.74 G GT PASS 1/1 100 FRAME_SHIFT HIGH None 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%
View combined sample_100.variant 7 rs59476355
dbSNP Clinvar 		36552729 4165.66 A AT PASS 1/1 126 FRAME_SHIFT HIGH None 0.99980 0.99980 None None None None None None AOAH|0.05743156|60.58%

AOC3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 17 rs33986943
dbSNP Clinvar 		41004637 1675.79 G A PASS 0/1 120 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04832 0.04832 0.07450 0.38 0.00 None None None None None None AOC3|0.087399951|53.73%

AP001468.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 21 rs146297977
dbSNP Clinvar 		47612512 9984.74 C CTG PASS 1/1 228 FRAME_SHIFT HIGH None 0.72105 0.72100 None None None None None None LSS|0.346361251|24.39%

AP003062.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 11 rs746401133
dbSNP Clinvar 		134855495 183.84 GCA G PASS 0/1 19 FRAME_SHIFT HIGH None None None None None None None None
View combined sample_100.variant 11 . 134855498 143.46 GT... G PASS 0/1 38 FRAME_SHIFT HIGH None None None None None None None None

APC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 5 rs41115
dbSNP Clinvar 		112175770 3164.59 G A PASS 1/1 101 PROTEIN_PROTEIN_INTERACTION_LOCUS HIGH None 0.66554 0.66550 0.41378 None None None None None None APC|0.952088564|2.19%
View combined sample_100.variant 5 rs2229992
dbSNP Clinvar 		112162854 1875.76 T C PASS 1/1 62 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.50998 0.51000 0.46217 None None None None None None APC|0.952088564|2.19%

AQP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 12 rs426496
dbSNP Clinvar 		50348078 1286.11 T C PASS 0/1 97 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

AQPEP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 5 rs751940664
dbSNP Clinvar 		115298519 1631.35 AC A PASS 0/1 137 FRAME_SHIFT HIGH None 0.00122 None None None None None None None

ARMS2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 10 rs2736911
dbSNP Clinvar 		124214355 1355.37 C T PASS 0/1 112 STOP_GAINED HIGH None 0.11442 0.11440 0.12546 None None None None None None ARMS2|0.000659964|97.48%

ARSB
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 5 rs1071598
dbSNP Clinvar 		78181423 165.1 C T PASS 0/1 15 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.10863 0.10860 0.13701 0.19 0.28 None None None None None None ARSB|0.08485524|54.24%

ARSD
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant X rs111939179
dbSNP Clinvar 		2833605 328.6 C T PASS 0/1 57 STOP_GAINED HIGH None None None None None None None ARSD|0.001611053|92.29%

ASAP3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 1 rs115515935
dbSNP Clinvar 		23763449 950.66 G A PASS 0/1 92 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.04992 0.04992 0.07377 None None None None None None ASAP3|0.049734125|62.74%

ASB10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 7 rs759438517
dbSNP Clinvar 		150884266 1779.05 CAG CA... PASS 0/1 66 FRAME_SHIFT HIGH None None None None None None None ASB10|0.051312988|62.24%

ASMTL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant X rs113329185
dbSNP Clinvar 		1522163 1061.19 CA C PASS 0/1 61 FRAME_SHIFT+STOP_LOST HIGH None 0.07688 0.07688 0.10279 None None None None None None ASMTL|0.001996891|91.03%

ASPA
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 17 rs12948217
dbSNP Clinvar 		3397702 830.91 C T PASS 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.20367 0.20370 0.28925 3.49 0.00 0.03575 T None None None None SPATA22|0.048389783|63.17%,ASPA|0.191557197|37.65%

ATG9B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 7 rs11393607,rs77573754
dbSNP Clinvar 		150713902 2328.44 G GC PASS 1/1 64 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00099 None None None None None None ATG9B|0.090467592|53.12%

ATP6V1B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 2 rs11681642
dbSNP Clinvar 		71163086 3781.72 T C PASS 1/1 129 START_LOST HIGH None 0.36881 0.36880 0.41504 0.00 0.60 None None None None None None ATP6V1B1|0.123167959|46.96%

ATXN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 14 rs763461489
dbSNP Clinvar 		92537353 1194.79 C CG PASS 0/1 80 FRAME_SHIFT HIGH None None None None None None None ATXN3|0.681306976|9.03%
View combined sample_100.variant 14 rs763541221
dbSNP Clinvar 		92537354 2459.82 C CC... PASS 1/2 61 FRAME_SHIFT HIGH None None None None None None None ATXN3|0.681306976|9.03%

B3GNT3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 19 . 17918785 662.76 G GC... PASS 0/1 73 FRAME_SHIFT HIGH None None None None None None None B3GNT3|0.00215134|90.58%
View combined sample_100.variant 19 . 17918783 666.7 CAG C PASS 0/1 81 FRAME_SHIFT HIGH None None None None None None None B3GNT3|0.00215134|90.58%

B3GNT6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View combined sample_100.variant 11 rs11292199
dbSNP Clinvar 		76751584 13585.6 CT C PASS 1/1 299 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%
View combined sample_100.variant 11 rs11292200,rs796140348
dbSNP Clinvar 		76751603 13658.1 CT C PASS 1/1 308 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00025 None None None None None None B3GNT6|0.006722766|83.81%
View combined sample_100.variant 11 rs11292198,rs796338514
dbSNP Clinvar 		76751541 11217.3 CT C PASS 1/1 304 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%